No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy

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• 作者：Madia ; Francesca ; Gennaro ; Elena ; Cecconi ; Massimiliano ; Buti ; Daniela ; Capovilla ; Giuseppe ; et. al.
• 关键词：Severe myoclonic epilepsy of infancy ; Ion-channels ; Genetics ; Mutations
• 刊名：Epilepsy Research
• 出版年：2003
• 期刊代码：87_09201211
• 类别：med
• 出版时间：March, 2003
• 卷：53
• 期：3
• 页码：196-200
• 文件大小：63.4 K

摘要

Severe myoclonic epilepsy of infancy (SMEI) has been long suspected to have a genetic origin. Recently mutations in the gene encoding a voltage-gated α-1 sodium channel subunit—SCN1A—have been identified as a common cause of SMEI. Moreover, a mutation in the gene encoding the γ2 subunit of the GABA_A receptor—GABRG2—has been described in a GEFS+ family with a member affected by SMEI. In order to further investigate the role of GABRG2 in the pathogenesis of SMEI, we have screened for mutations 53 SMEI patients who resulted negative for SCN1A mutations. Mutational screening of GABRG2 genes was performed by denaturing high performance liquid chromatography (DHPLC) and direct sequencing of DNA fragments showing a variant chromatogram. Twenty-nine variant chromatograms were identified corresponding to seven different nucleotide variants. None of them leads to an aminoacid change or obvious protein dysfuntion. No difference in allele frequency was observed for the SMEI patients compared to a control population indicating that these variants are not involved in SMEI.